First trimester prenatal diagnosis of haemophilia A: Two years' experience

We evaluated the feasibility, reliability, and acceptability of prenatal diagnosis of haemophilia A by DNA analysis of chorionic villi. Twenty-two women at risk to transmit the abnormal gene were referred for prenatal diagnosis, two of them twice. Two of the 22 women appeared to be non-carriers by DNA analysis. In one of these women, the results were known only after chorionic villus sampling had been carried out. Thirteen of the twenty carriers were heterozygous for an intragenic (Bell or Xbal) marker; six women were only heterozygous for the extragenic DXS52 (Stl4) locus. One of the women was homozygous for all the presently known DNA markers within or closely linked with the factor VIII locus. Twelve of the 22 fetuses at risk were male, ten were female. Seven of the 12 male fetuses were shown to be affected and were subsequently aborted. Four male fetuses appeared to be not affected. In one case, the diagnosis was made by use of an extragenic marker. The woman rejected fetal blood sampling to confirm the diagnosis. After birth, a normal factor VIII level was found in three of the four cases. The fourth pregnancy is still continuing. In one of the 12 male fetuses, no diagnosis at the gene level was possible. DNA analysis is expected to provide maximum certainty as to the phenotype of the fetus for approximately 60 per cent of the women; for another 37 per cent a rate of misdiagnosis of 4–5 per cent applies. In only 3 per cent of the cases will no diagnosis at the gene level be possible as yet. The new possibility of a prenatal diagnosis in the first trimester of pregnancy enabled some of these women to have a family of their own and was appreciated in particular by the women who underwent fetoscopy in an earlier pregnancy.     

Modal choice for transportation of hazardous materials: the case of land modes of transport of bio-ethanol in Brazil

Performance evaluation is important in managing freight transport. The transport of certain products, especially those that are hazardous, can have significant financial and socio-environmental impacts. This article presents an application of the modal choice method (MCM) to establish an order of priority among the alternatives considered to carry a determined hazardous product. After a research of the literature on the concepts and development of the proposed method, we consulted experts about their experiences and knowledge, to determine a set of relevant attributes for the evaluation process. We then applied this method to the specific case of the Brazilian bio-ethanol industry, to demonstrate the potential of using the MCM as a tool to support make decisions. We can conclude that highway transport, though the most often used, is not the best compared to trains or pipelines (or combinations of any of the three) from a socio-environmental standpoint. Alternatives with longer pipeline segments are the most suitable to replace the current practice in environmental terms.     

Development of an indirect-cost calculation model suitable for workplace use

Introduction: Occupational Health and Safety (OHS) stakeholders rarely factor the cost of workplace accidents into prevention spending decisions. The lack of consideration of this key information is related to the fact that the scientific literature has failed to provide OHS stakeholders with a cost-calculation tool that is both sufficiently accurate and does not require a data-collection stage ill-suited to the time constraints of workplace decision-makers. Method: This study reviews the recent literature to identify key elements that should foster the use of indirect-cost calculation methods by decision makers. Results: A “local” approach currently appears to be the best method for calculating indirect costs of workplace incidents or accidents in comparison to “bottom-up” or “top-down” approach. This paper discusses four criteria that this type of approach must satisfy to be compatible with the time constraints and accuracy demands of OHS stakeholders in organizations. In addition, four bases for the development of a new indirect cost estimation model are presented and discussed. Impact on industry: this study provides bases and criteria to help the development of indirect-cost calculation models better suited to workplace use than those currently available.     

Optimization of Methods for Detecting Hepatitis A Virus in Food

Hepatitis A virus (HAV) is currently recognized as an important human food borne pathogen, and it is one of the most resistant enteric RNA viruses, is highly infectious, and may lead to widespread outbreaks. The aim of this study was to optimize the methods to detect HAV from artificially contaminated food. To this end, strawberry and lettuce were experimentally contaminated with HAV suspension containing 6 × 10⁶ copies/ml. After contamination, HAV persistence and washing procedure were evaluated at 0, 1, 3, 7, and 9 days of storage. Five elution buffers (PBS (pH 7.4)/0.1% Tween80; 50 mM glycine/3% (wt/vol) beef extract (pH 9.5); PBS (pH 7, 4); 25 mM glycine/0.1 Tween80; and 1 M sodium bicarbonate) were used to elute the virus, and qualitative and quantitative PCR were used for HAV detection. HAV was detected by qualitative and quantitative PCR using any of the five elution buffers, but PBS was the most effective. Even after washing, HAV was detected up to 9 days after contamination by quantitative PCR. Quantitative PCR was more sensitive than qualitative PCR since samples containing viral load lower than 1.4 × 10³ copies/ml could not be detected by qualitative PCR. Quantitative PCR can be used for rapid detection of food borne viruses and will help in the monitoring and control of food borne disease.     

Prenatal sonographic assessment of early,rapidly growing fetal cervical teratoma

Although malignant transformation of fetal cervical teratoma is extremely rare, perinatal morbidity is high and usually related to the size of the tumour, which may compromise fetal swallowing and subsequently lead to upper airway obstruction. We present a case in which mid-trimester serial sonography demonstrated markedly rapid early growth of a lesion of this type between 17 and 19 weeks' gestation indicating the aggressive nature of this tumour, assisting parental decision to terminate the pregnancy. Histopathology confirmed grade 3 immaturity of the lesion.